Genetic Mutation Linked to Iron Deficiency in Crohn's Disease Patients

Significant Discovery in Crohn's Disease Research

New Delhi, June 9: Recent research has identified a genetic mutation that exacerbates iron deficiency and anemia in individuals suffering from Crohn's disease.

Crohn's disease is a long-term inflammatory bowel condition that can impact both the small and large intestines.

This disease is marked by persistent inflammation, which can lead to symptoms such as abdominal discomfort, diarrhea, fatigue, and unintended weight loss, along with the potential for anemia.

Iron-deficiency anemia is particularly prevalent among those with Crohn's, contributing to chronic fatigue and diminishing quality of life, especially during flare-ups of the disease.

Researchers from the University of California, Riverside School of Medicine discovered that a mutation in the PTPN2 gene (protein tyrosine phosphatase non-receptor type 2) is responsible for this issue. This mutation is present in approximately 14-16% of the general population and 19-20% of those with inflammatory bowel disease.

The study, which analyzed serum samples from patients with IBD, revealed that individuals with a loss-of-function mutation in the PTPN2 gene experience significant disruptions in blood proteins that manage iron levels.

A loss-of-function mutation refers to a genetic alteration that diminishes or completely abolishes the normal function of a gene or its corresponding protein.

Declan McCole, a professor of biomedical sciences at UCR and the study's lead, stated, "This finding illuminates a vital mechanism that connects a patient's genetic makeup to their capacity to absorb and regulate iron, which is crucial for sustaining healthy blood and energy levels."

McCole further explained, "Our research provides insight into why certain IBD patients continue to experience iron deficiency despite taking oral supplements."

In experiments where the PTPN2 gene was removed from mice, the subjects developed anemia and showed ineffective iron absorption.

The results, published in the International Journal of Molecular Sciences, indicated that this was due to decreased levels of a critical iron-absorbing protein found in intestinal epithelial cells, which are responsible for nutrient uptake from food.